Now showing items 1-4 of 4
A high-coverage genome sequence from an archaic Denisovan individual
(American Association for the Advancement of Science (A A A S), 2012-10-12)
We present a DNA library preparation method that has allowed us to reconstruct a high-coverage (30x) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality of this genome allows a direct estimation ...
Determining the origin of synchronous multifocal bladder cancer by exome sequencing
(BioMed Central Ltd., 2015)
Background: Synchronous multifocal tumours are commonly observed in urothelial carcinomas of the bladder. The origin of these physically independent tumours has been proposed to occur by either intraluminal migration ...
Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair
(B M J Group, 2014)
Background: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10-8 mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de ...
Fast and accurate mapping of complete genomics reads
(Academic Press, 2015)
Many recent advances in genomics and the expectations of personalized medicine are made possible thanks to power of high throughput sequencing (HTS) in sequencing large collections of human genomes. There are tens of ...